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primary topic: Frontotemporal dementia and its subtypes: a genome-wide association study

Frontotemporal dementia and its subtypes: a genome-wide association study
type: AcademicArticle
type: Article
abstract: SummaryBackground Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes—MAPT, GRN, and C9orf72—have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with {FTD} and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with {FTD} and 4308 controls), we did separate association analyses for each {FTD} subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and {FTD} overlapping with motor neuron disease FTD-MND), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10−8) single-nucleotide polymorphisms. Findings We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10−8). Combined (joint) analyses of discovery and replication phases showed genome-wide significant association at 6p21.3, \{HLA\} locus (immune system), for rs9268877 (p=1·05 × 10−8; odds ratio=1·204 95% \{CI\} 1·11–1·30), rs9268856 (p=5·51 × 10−9; 0·809 0·76–0·86) and rs1980493 (p value=1·57 × 10−8, 0·775 0·69–0·86) in the entire cohort. We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural \{FTD\} subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10−7; 0·814 0·71–0·92). Analysis of expression and methylation quantitative trait loci data suggested that t…
date: 2014
volume: 13
issue: 7
is part of: The Lancet Neurology
status: peerReviewed
status: published
author list: authors
type: EPrint
type: ArticleEPrint
is part of: repository
has document: Frontotemporal dementia and its subtypes: a genome-wide association study (PDF)
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subject: RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry

Frontotemporal dementia and its subtypes: a genome-wide association study (PDF)
type: Document
has file: nihms599470.pdf
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Elsevier
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The Lancet Neurology
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issn: 14744422

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Frontotemporal dementia and its subtypes: a genome-wide association study (Other)
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Frontotemporal dementia and its subtypes: a genome-wide association study (Other)
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Frontotemporal dementia and its subtypes: a genome-wide association study (Other)
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primary topic: Frontotemporal dementia and its subtypes: a genome-wide association study

RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
type: Concept